ClinVar for Gene (Select 58490) - ClinVar - NCBI

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Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315268	NM_021215.4(RPRD1B):c.766C>T (p.Arg256Trp)	RPRD1B (R256W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685645	GRCh37/hg19 20q11.23(chr20:36112920-36787057)x1	BLCAP, CTNNBL1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 2624366	NM_021215.4(RPRD1B):c.565A>C (p.Asn189His)	RPRD1B (N189H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482714	NM_021215.4(RPRD1B):c.472G>C (p.Asp158His)	RPRD1B (D158H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334035	NM_021215.4(RPRD1B):c.17A>C (p.Glu6Ala)	RPRD1B (E6A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279882	NM_021215.4(RPRD1B):c.306A>T (p.Lys102Asn)	RPRD1B (K102N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic